ASSOCIATION OF NF-1 AND MOYAMOYA SYNDROME : CASE REPORT

Abstract

Introduction: Neurofibromatosis type 1 (NF-1) is the most prevalent autosomal dominant genetic disorder. NF-1 vasculopathy is a significant complication of the disease. It affects both arterial and venous blood vessels of all sizes. Also Moyamoya syndrome is a cerebral vasculopathy . It is rarely detected with NF-1 in the pediatric group. Herein, we report of a 5 year-old male with NF1 and moyamoya syndrome. Case Report: A 6-month-old baby boy was brought by his family with the complaint of brown spots on the body. On physical examination, cafe au lait spots on the body, subcutaneous nodule in the occipital area and hypotonicity were found. He was examined considering neurofibromatosis, one of the neurocutaneous diseases. Abdominal ultrasonography, brain MRI, echocardiyography, electroencephalography were normal. There was no pathological evidence in eye examination. In genetic tests, NF1 p.GIn2217 gene was found heterozygous positive. patient was followed up with annual brain MRI. Hamartomatous lesions in left putamen and left thalamus posterior were detected in brain MRI when the patient was two years old. There was no pathological evidence on norological physical excamination.When he was three years old thickening and enhancement of the right optic nerve was found in MRI due to possible optic glioma. Only in the left cerebellar hemisphere, two millimeter-sized hamartomatous lesions in the white matter were found to have newly developed. Both internal carotid arteries (ICA) are thinned from the supraclinoid segment. Middle cerebral artery (MCA) M1 segment on the right and anterior cerebral artery (ACA) A1 segment on the left could not be selected. Many thin collateral vascular structures were selected in these localizations and were found to be significant in terms of Moyamoya disease.Regression was detected in right optic glioma.No predisposing factor was found in the examinations of the patient for thrombosis. Acetyl salicylic acid prophylaxis was started. The patient was taken under neurosurgery follow-up for revascularization surgery. The follow-up and treatment continues. Conclusion: Association of NF-1 and Moyamoya syndrome is rare, but carries a potential risk of clinicoradiological progression. Closed monitoring of children with neurofibromatosis type 1 enables early diagnosis of moyamoya syndrome. Revascularization surgery may effective way to prevent progression of clinical symptoms, but long-term results require close follow-up studies.